A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034521



Internal ID19123743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:568570..621727hg38UCSC Ensembl
Innerchr5:568685..621842hg19UCSC Ensembl
Innerchr5:621685..674842hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3853158
hg1953158
hg1853158
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3633223
Samples
Known GenesCEP72, LOC100996325
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1034521
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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